Gene Curation Scientist (Population and Clinical Genomics)

Job Location
United Kingdom
Industry leading package includes equity, bonus, healthcare and more!

10% pension

Company equity

Annual bonus scheme

Private healthcare

Share purchase scheme

Job Description

Gene Curation Scientist (Population and Clinical Genomics)

Opportunity for full- or part-time


Can be home-based (if living within reasonable distance of Cambridge)

Competitive remuneration package which includes annual bonus, equity, healthcare, 10% pension and more!



Are you a geneticist with a passion for understanding the genetic basis of disease?

Are you interested in a role that is non-lab based and offers great opportunity for flexible working?


The Population and Medical Genomics group at Illumina explores applications of next-generation sequencing in healthcare. We would like to offer an exciting opportunity to be part of a team dedicated to building a knowledge base of curated human gene-disease relationships. The gene curation process is designed to evaluate the strength of a gene-disease association based on publicly available evidence curated from the literature and other resources. The initial emphasis will be on rare genetic diseases, but the project will extend over time to include somatic and complex genetic diseases.



Job duties include but are not limited to:

  • Performing critical assessment and interpretation of information from the medical and scientific literature and other databases
  • Extracting and scoring the relevant information following the gene curation SOP to arrive at an initial classification of the strength of the gene-disease relationship
  • Discussion of results with senior team members to arrive at a final classification of the strength of the gene-disease relationship
  • Entering the gene curation data and classification into an internal database

Skills that the ideal candidate will exhibit:

  • Ability to evaluate critically and interpret data from medical and scientific literature
  • Strong analytical and problem solving skills
  • Outstanding attention to detail
  • Excellent oral and written communication skills
  • Ability to work to deadlines and be flexible to changing priorities


Education and Experience:

  • Master’s degree or PhD in a biological sciences field
  • Detailed knowledge of molecular genetics
How to Apply

This role would suit a MSc or PhD level candidate who enjoys extracting key data from scientific literature and has a natural flair for information gathering and evaluation.  This position is being offered as full-time or part-time and is suitable for working on-site at Illumina’s site in Chesterford Research Park or remotely.


Interested parties will need to apply via our careers website and using the reference 6740BR.

About Our Organization

All About Us

Do you want to make a difference? Illumina’s mission is to improve human health by unlocking the power of the genome. If that inspires you, let’s talk. We’ve built a culture fueled by innovation, collaboration and openness, and established ourselves as the global leader in DNA sequencing and array-based technologies. Our people and our technology change lives by driving advancements in life sciences, oncology, reproductive health, agriculture and other emerging markets. We are deeply passionate about what we do, because we know that our work has the power to improve lives.

We’re an established company with a track record of phenomenal growth. Our revenue grew from $10 million in 2002 to approximately $2.4 billion in 2016. Our growth isn’t just revenue, we’ve been hiring the best and the brightest. Perhaps that’s why MIT has ranked Illumina near the top of its “World’s Smartest Companies” list each of the last three years. If you thrive in a brilliant, fast-paced, and mission-driven environment, Illumina is the place for you – imagine the possibilities.

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